Canonical Allele Identifier: CA136898
Gene: WHRN HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114406753A>G , CM000671.2:g.114406753A>G GRCh38
NC_000009.11:g.117169033A>G , CM000671.1:g.117169033A>G GRCh37
NC_000009.10:g.116208854A>G NCBI36
NG_016700.1:g.103704T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000699485.1:c.182T>C ENSP00000514396.1:p.Met61Thr
ENST00000362057.4:c.1838T>C MANE Select ENSP00000354623.3:p.Met613Thr
ENST00000673811.1:n.2562T>C
ENST00000674036.8:c.811T>C
ENST00000674048.1:n.1719T>C
ENST00000265134.10:c.689T>C ENSP00000265134.6:p.Met230Thr
ENST00000362057.3:c.1838T>C ENSP00000354623.3:p.Met613Thr
ENST00000374059.7:c.785T>C ENSP00000363172.3:p.Met262Thr
NM_001083885.2:c.689T>C NP_001077354.2:p.Met230Thr
NM_001173425.1:c.1838T>C NP_001166896.1:p.Met613Thr
NM_015404.3:c.1838T>C NP_056219.3:p.Met613Thr
XM_005251897.3:c.1175T>C XP_005251954.2:p.Met392Thr
XM_011518484.1:c.1871T>C XP_011516786.1:p.Met624Thr
XM_011518485.1:c.1871T>C XP_011516787.1:p.Met624Thr
XM_011518486.1:c.1871T>C XP_011516788.1:p.Met624Thr
XM_011518487.1:c.1745T>C XP_011516789.1:p.Met582Thr
XM_011518488.1:c.1628T>C XP_011516790.1:p.Met543Thr
XM_011518495.1:c.548T>C XP_011516797.1:p.Met183Thr
XR_929747.1:n.2775T>C
XR_929748.1:n.2673T>C
NM_001346890.1:c.785T>C NP_001333819.1:p.Met262Thr
XM_011518486.2:c.1871T>C XP_011516788.1:p.Met624Thr
XM_011518487.2:c.1745T>C XP_011516789.1:p.Met582Thr
XM_011518488.2:c.1628T>C XP_011516790.1:p.Met543Thr
XR_929747.2:n.2086T>C
XR_929748.2:n.1984T>C
NM_015404.4:c.1838T>C MANE Select NP_056219.3:p.Met613Thr
NM_001173425.2:c.1838T>C NP_001166896.1:p.Met613Thr
NM_001083885.3:c.689T>C NP_001077354.2:p.Met230Thr